The Serine Protease Activity of Corin Is Required for Normal Pigment Type Switching

Laron, Efrat Avigad; Aamar, Emil; Enshell-Seijffers, David

doi:10.1016/j.jid.2018.07.024

Cited by 7 publications

(7 citation statements)

References 12 publications

(14 reference statements)

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“…2015; Avigad Laron et al . 2019). The CORIN:c.2383C>T variant identified in sunshine tabby and bimetallic cats was predicted to change arginine 795 into a cysteine in the scavenger receptor cysteine‐rich domain of CORIN.…”

Section: Resultsmentioning

confidence: 99%

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Siberian cats help in solving part of the mystery surrounding golden cats

Beauvois

Citres²,

Gache

et al. 2021

Animal Genetics

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Summary Golden cats have been appreciated since the beginning of the cat fancy. Golden is a modification of the tabby coat. In the Siberian breed, a specific golden phenotype, named sunshine, has been described. Sunshine tabby cats exhibit a warm tone of tabby, a pink nose lacking the black lining and a large light cream area around the nose. Pedigree analyses revealed an autosomal recessive inheritance pattern. A single candidate region was identified by genome‐wide association study (GWAS) and homozygosity mapping. Within that region, we identified CORIN (Corin, serine peptidase) as a strong candidate gene, since CORIN variants have been identified in mice and tigers with a golden phenotype and CORIN has been described as a modifier of the ASIP (Agouti Signaling Protein) pathway. A homozygous CORIN:c.2383C>T missense variant was identified in sunshine tabby cats. Segregation of the variant was consistent with recessive inheritance. The variant was also found in three Kurilian bobtail cats and in two ToyBob cats from the 99 Lives dataset but genotyping of 106 cats from 13 breeds failed to identify carriers in cats from other breeds. The CORIN:c.2383C>T variant was predicted to change an arginine to a cysteine at position 795 in the protein: CORIN:p.(Arg795Cys). Finally, hair observation in Siberian cats was consistent with elongated ASIP signaling as golden hair showed a large yellow band instead of the short subapical one usually observed in agouti hair. These results support an association of the Siberian sunshine modification with the CORIN:c.2383C>T variant. The Siberian cat has helped us to decipher one of the golden phenotypes observed in cats and we propose that the CORIN:c.2383C>T variant represents the wbSIB (Siberian recessive wideband) allele in the domestic cat.

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Section: Resultsmentioning

confidence: 99%

“…A similar mechanism was reported for CORIN atrial natriuretic peptide convertase activity (Avigad Laron et al . 2019). The resulting impaired CORIN activity leads to increased ASIP action and to an enlarged yellow pheomelanin band in agouti hair.…”

Section: Discussionmentioning

confidence: 99%

Siberian cats help in solving part of the mystery surrounding golden cats

Beauvois

Citres²,

Gache

et al. 2021

Animal Genetics

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“…Transient expression of ASIP results in a subapical yellow band from the pigment switching from eumelanin to pheomelanin and loss of Corin expands the band of lighter pigmentation (Fig4D). Targeted catalytic mutation of Corin in the mouse results in a wideband phenotype and shows that enzymatic function is required for pigment switching (18). Several wideband Corin cat mutants have been described in various Corin extracellular domains with inferred loss of function.…”

Section: Discussionmentioning

confidence: 99%

“…Corin missense and loss of function variants have been reported in the yellow coated Hanwoo Korean cattle (13), the golden Bengal tiger (14), the domestic Siberian golden tabby cat (15), the extreme-sunshine tabby cat (16) and the copper coated British recessive wideband cat (17); all with expanded lighter color pigment in their hair shafts. These various natural wideband Corin mutants bear a similarity with a targeted catalytic point mutation in the mouse demonstrating that the genetic interaction is tied to Corin enzymatic activity for coat color regulation (18). However, a clear connection between Corin and ASIP at the protein level has not been fully described.…”

Section: Introductionmentioning

confidence: 99%

Identification of a new Corin atrial natriuretic peptide-converting enzyme substrate: Agouti-signaling protein (ASIP)

MacDonald

Elowe

Garvie

et al. 2023

Preprint

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Corin is a transmembrane tethered enzyme best known for processing the hormone atrial natriuretic peptide (ANP) in cardiomyocytes to control electrolyte balance and blood pressure. Loss of function mutations in Corin prevent ANP processing and lead to hypertension. Curiously, Corin loss of function variants also result in lighter coat color pigmentation in multiple species. Corin pigmentation effects are dependent on a functional Agouti locus encoding the agouti-signaling protein (ASIP) based on a genetic interaction. However, the nature of this conserved role of Corin has not been defined. Here we report that ASIP is a direct proteolytic substrate of the Corin enzyme.

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“…2B; P = 7.26 × 10 −16 ), a serine peptidase expressed in hair follicles that acts as a downstream suppressor of the agouti signaling protein ( ASIP ) ( 22 ). Loss-of-function mutations in CORIN have been associated with enlarged pheomelanin bands and lighter pelage in tigers ( 23 ) and mice ( 24 ). The other association centered on the endothelin receptor type B ( EDNRB , Fig.…”

Section: The Genetic Basis Of Winter Coat Colormentioning

confidence: 99%

The evolution of white-tailed jackrabbit camouflage in response to past and future seasonal climates

Ferreira

Thurman

Jones

et al. 2023

Science

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The genetic basis of adaptive traits has rarely been used to predict future vulnerability of populations to climate change. We show that light versus dark seasonal pelage in white-tailed jackrabbits ( Lepus townsendii ) tracks snow cover and is primarily determined by genetic variation at endothelin receptor type B ( EDNRB ), corin serine peptidase ( CORIN ), and agouti signaling protein ( ASIP ). Winter color variation was associated with deeply divergent alleles at these genes, reflecting selection on both ancestral and introgressed variation. Forecasted reductions in snow cover are likely to induce widespread camouflage mismatch. However, simulated populations with variation for darker winter pelage are predicted to adapt rapidly, providing a trait-based genetic framework to facilitate evolutionary rescue. These discoveries demonstrate how the genetic basis of climate change adaptation can inform conservation.

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The Serine Protease Activity of Corin Is Required for Normal Pigment Type Switching

Cited by 7 publications

References 12 publications

Siberian cats help in solving part of the mystery surrounding golden cats

Siberian cats help in solving part of the mystery surrounding golden cats

Identification of a new Corin atrial natriuretic peptide-converting enzyme substrate: Agouti-signaling protein (ASIP)

The evolution of white-tailed jackrabbit camouflage in response to past and future seasonal climates

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